Rare and undiagnosed diseases impose a substantial medical, financial, and psychosocial burden on patients and families. Patients may remain undiagnosed for many years despite being seriously ill. This can happen in cases of known rare disease going undiagnosed because of how infrequent the condition is; a more common disease with unusual symptoms; or a disease previously unknown to medicine.
To respond to the needs of these patients, Columbia clinicians have initiated the DISCOVER program to diagnose and treat rare diseases. The program has had marked success in evaluating and diagnosing these undiagnosed patients using the precision medicine tool box, including whole exome/genome sequencing, RNA-Seq, metabolomics, proteomics, and infectious disease screens.
Many of our patients have been on long diagnostic odysseys, and we are enabling rapid disease diagnosis using state-of-the-art genomic tools. Genome-sequencing results can be returned within one week for patients in the intensive care unit for whom a rapid diagnosis is needed. Rapid delivery of comprehensive genomic information in over 1,000 patients has provided a diagnosis in over 35% of patients and allowed us to define over 20 ultra-rare genetic conditions not previously known to medicine.
Now that we are able to efficiently and accurately diagnose many genetic conditions, a high priority for the treatment of rare disorders is to seek greater understanding of these novel disease pathways, and use model systems to develop appropriate therapies. We are developing these tools as part of the Columbia Precision Medicine Initiative to construct models of many of the new diseases we have identified, and are working to one day use gene editing to treat patients.